PyClone is statistical model and software tool designed to infer the prevalence of point mutations in heterogeneous cancer samples. The input data for PyClone consists of a set read counts from a deep sequencing experiment, the copy number of the genomic region containing the mutation and an estimate of tumour content.
References:
- Roth et al. PyClone: statistical inference of clonal population structure in cancer PMID: 24633410
- Module Name: pyclone (see the modules page for more information)
- Example files in /usr/local/apps/pyclone/examples
Allocate an interactive session and run the program. Sample session:
[user@biowulf]$ sinteractive --mem=10g salloc.exe: Pending job allocation 46116226 salloc.exe: job 46116226 queued and waiting for resources salloc.exe: job 46116226 has been allocated resources salloc.exe: Granted job allocation 46116226 salloc.exe: Waiting for resource configuration salloc.exe: Nodes cn3144 are ready for job [user@cn3144 ~]$ module load pyclone [user@cn3144 ~]$ cp -r /usr/local/apps/pyclone/examples /data/$USER [user@cn3144 ~]$ cd /data/$USER/examples/mixing/tsv [user@cn3144 ~]$ PyClone run_analysis_pipeline --in_files SRR385939.tsv SRR385940.tsv SRR385941.tsv --working_dir pyclone_analysis [user@cn3144 ~]$ exit salloc.exe: Relinquishing job allocation 46116226 [user@biowulf ~]$
This will create a directory pyclone_analysis. After the command completes the directory will contain several folders and the file config.yaml:
- config.yaml
- plots/
- tables/
- trace/
- yaml/
- config.yaml - This file specifies the configuration used for the PyClone analysis.
- plots - Contains all plots from the analysis. There will be two sub-folders clusters/ and loci/ for cluster and locus specific plots respectively.
- tables - This contains the output tables with summarized results for the analysis. There will be two tables clusters.tsv and loci.tsv, for cluster and locus specific information.
- trace - This the raw trace from the MCMC sampling algorithm. Advanced users may wish to work with these files directly for generating plots and summary statistics.
Create a batch input file (e.g. batch.sh). For example:
#!/bin/bash set -e module load pyclone PyClone run_analysis_pipeline --in_files SRR385939.tsv SRR385940.tsv SRR385941.tsv --working_dir pyclone_analysis
Submit this job using the Slurm sbatch command.
sbatch [--mem=#] batch.sh
Create a swarmfile (e.g. job.swarm). For example:
cd dir1;PyClone ... cd dir2;PyClone ... cd dir3;PyClone ... cd dir4;PyClone ...
Submit this job using the swarm command.
swarm -f job.swarm [-g #] --module pyclonewhere
-g # | Number of Gigabytes of memory required for each process (1 line in the swarm command file) |
--module | Loads the module for each subjob in the swarm |